Literature DB >> 22088931

Proximal symphalangism and premature ovarian failure.

Nadira Kadi1, Latifa Tahiri, Mariame Maziane, Fatima Zahra Mernissi, Taoufik Harzy.   

Abstract

Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. This gene may be involved in secretory functions of glands such as ovarian function. Premature ovarian failure is idiopathic in 80% of cases but may be secondary to multiple etiologies including genetic. We report the case of a patient with proximal symphalangism and premature ovarian failure, and we discuss the possibility of genetic relationship between the two anomalies.
Copyright © 2011. Published by Elsevier SAS.

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Year:  2011        PMID: 22088931     DOI: 10.1016/j.jbspin.2011.05.029

Source DB:  PubMed          Journal:  Joint Bone Spine        ISSN: 1297-319X            Impact factor:   4.929


  1 in total

1.  Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Authors:  Cong Ma; Lv Liu; Fang-Na Wang; Hai-Shen Tian; Yan Luo; Rong Yu; Liang-Liang Fan; Ya-Li Li
Journal:  BMC Med Genet       Date:  2019-11-06       Impact factor: 2.103

  1 in total

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